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6,710 Possible Causes for (never, 6, NIMA, a) related, gene, human, IN, kinase, mitosis, protein

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  • Melatonin

    […] glutamate-cysteine ligase (GCLC), NAD(P)H:quinone acceptor oxidoreductase 1 (NQO1), thioredoxin (TXN)) or 2) alters secretion of the anti-angiogenic factors soluble fms-like tyrosine kinase[ncbi.nlm.nih.gov] We report the case of a 17-year-old male subject with recurrent hypersomnia who displayed change in the 24 h expression of the hPer2 gene in whole red and white blood cells[ncbi.nlm.nih.gov] […] production by suppressing BMP-6 signaling, leading to the preservation of ovarian function. 2018 Elsevier Inc.[ncbi.nlm.nih.gov] Abstract Dendritic cell nuclear protein-1 (DCNP1) is a protein associated with major depression. In the brains of depression patients, DCNP1 is up-regulated.[ncbi.nlm.nih.gov] DISCUSSION: To the best of our knowledge, DA transporter density increase over time has never been reported in a single subject, neither healthy aged individuals nor patients[ncbi.nlm.nih.gov] Importantly, our study for the first time shows that peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (Pin1) is a crucial target of melatonin.[ncbi.nlm.nih.gov] Inhibition of protein never in mitosis gene A interacting-1 (PIN1) by juglone or small interfering RNA reversed the effects of melatonin on EtOH-mediated senescence as well[ncbi.nlm.nih.gov] BACKGROUND: Sleep-related eating may occur in the context of mental illness, sleep disorders, or psychopharmacological treatment.[ncbi.nlm.nih.gov] Expression of MT1 and MT2 has been shown in mouse, rat, and human pancreatic islets as well as in the β-, α-, and δ-cell lines INS-1, αTC1.9, and QGP-1.[ncbi.nlm.nih.gov] We applied phospho-receptor tyrosine kinase (RTK) array and phospho-tyrosine kinase array to explore the mechanism of the combined therapy.[ncbi.nlm.nih.gov]

    Missing: IN
  • Plasmodium Falciparum

    Abstract Plasmodium falciparum thymidylate kinase (PfTMK) is a critical enzyme in the de novo biosynthesis pathway of pyrimidine nucleotides.[ncbi.nlm.nih.gov] Of 5399 genes, our study defined 2680 genes as essential for optimal growth of asexual blood stages in vitro.[ncbi.nlm.nih.gov] Abstract In Plasmodium falciparum the bifunctional enzyme glucose-6-phosphate dehydrogenase‒6-phosphogluconolactonase (PfG6PD‒6PGL) is involved in the catalysis of the first[ncbi.nlm.nih.gov] During the intraerythrocytic cycle, P. falciparum releases three proteins with high histidine content as follows: histidine-rich protein 1 (HRP1), histidine-rich protein 2[ncbi.nlm.nih.gov] To the best of our knowledge, such a case has never been reported so far in the literature.[ncbi.nlm.nih.gov] Nima MK 1 , Hougard T 2, 1 , Hossain ME 1 , Kibria MG 1 , Mohon AN 3, 1 , Johora FT 1 , Rahman R 1 , Haque R 1 , Alam MS 1 .[ncbi.nlm.nih.gov] (A) Early mitosis.[ec.asm.org] As a consequence of infection, systemic inflammation emerges and is directly related to signs and symptoms during acute disease.[ncbi.nlm.nih.gov] METHODS: We quantified the ability of human antibodies from malaria-exposed populations to interact with human complement, examined the functional effects of complement activity[ncbi.nlm.nih.gov] P. falciparum calcium-dependent protein kinases ( Pf CDPKs) play critical roles at various stages of the parasite life cycle and, importantly, are absent in the human host[ncbi.nlm.nih.gov]

    Missing: IN
  • Nephronophthisis

    Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes.[ncbi.nlm.nih.gov] Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS.[ncbi.nlm.nih.gov] Six genes, NPHP1-6, have been reported, which when mutated result in NPHP.[ncbi.nlm.nih.gov] protein complexes.[ncbi.nlm.nih.gov] We describe a case of JS with nephronophthisis in neurofibromatosis Type 1 leading to end-stage renal disease, a association that has never been described earlier in the medical[ncbi.nlm.nih.gov] Targeted genome capture and next-generation sequencing of this region identified a non-synonymous mutation R650C in the NIMA (never in mitosis gene a)- related kinase 8 ([ncbi.nlm.nih.gov] If extrarenal symptoms are present in addition to NPHP, these disorders are classified as NPHP-related ciliopathies (NPHP-RC).[ncbi.nlm.nih.gov] Here we identify mutation of GLIS2 as causing an NPHP-like phenotype in humans and mice, using positional cloning and mouse transgenics, respectively.[ncbi.nlm.nih.gov] […] nephronophthisis 3 (adolescent) NPHP3 CFAP31 FLI30691 FLI36696 KIAA2000 MKS7 NPH3 SLSN3 608002 7907 nephrocystin 4 nephronophthisis 4 NPHP4 KIAA0673 POC10 SLSN4 607215 19104 NIMA[ukgtn.nhs.uk] Overexpression of these mutants did not affect overall ciliogenesis, mitosis, or centriole number.[ncbi.nlm.nih.gov]

    Missing: IN
  • Fasciola Hepatica

    In the present report we incubated a human liver cell line in the presence of either F. hepatica excretory/secretory material (FhES) or recombinant phosphoglycerate kinase[ncbi.nlm.nih.gov] Non-synonymous polymorphisms were elevated in genes shared with parasitic taxa, which may be particularly relevant for the ability of the parasite to adapt to a broad range[ncbi.nlm.nih.gov] However, F. gigantica ITS-2 was not detected in the 6 F. hepatica -positive samples by PCR.[ncbi.nlm.nih.gov] The protein shows strongest sequence similarity to egg antigen proteins from Schistosoma mansoni, Schistosoma japonicum and Clonorchis sinensis.[ncbi.nlm.nih.gov] This common liver fluke of the sheep has so far lived in vitro only for short periods of about 60 hr. and never more than about three days.[nature.com] In TCBZ-S flukes exposed to TCBZ metabolites for 24–96 h in vivo , but not in TCBZ-R flukes, those tissues where active meiosis and/or mitosis occurred (testis, ovary, and[mdpi.com] Comparative genomics indicated that F. hepatica Oregon and related food-borne trematodes are metabolically less constrained than schistosomes and cestodes, taking advantage[ncbi.nlm.nih.gov] Abstract A new case of human infection due to Fasciola hepatica is reported in the Venezuelan parasitological literature.[ncbi.nlm.nih.gov] Concurrently, Fh12 suppress the phosphorylation of various kinases (p38, JNK and ERK) downstream the TLR4 signaling cascade and induce the activation of macrophages by an[jimmunol.org] We analyzed this Pgp gene from TCBZ-susceptible and TCBZ-resistant populations from Australia to determine if the SNP was a marker for TCBZ resistance.[ncbi.nlm.nih.gov]

    Missing: NIMA IN
  • Toxoplasma Gondii

    TgCDPK2, a member of the T. gondii calcium-dependent protein kinase family, was recently identified as an essential regulator for viable cyst development in T. gondii.[ncbi.nlm.nih.gov] […] of how an intracellular T. gondii can manipulate host genes to avoid host defense.[ncbi.nlm.nih.gov] Epub 2016 Apr 6.[ncbi.nlm.nih.gov] KEYWORDS: Host-pathogen interaction; Protein-protein interaction; Tg14–3-3; Toxoplasma gondii; Yeast two-hybrid system[ncbi.nlm.nih.gov] Studies conducted for this manuscript involve a different, never before really reported correlation between latent T. gondii infection and ethanol abuse.[ncbi.nlm.nih.gov] This process involves a single round of DNA replication, closed nuclear mitosis, and assembly of two daughter cells within a mother.[ncbi.nlm.nih.gov] A significant relation was determined between IgG positivity and GAD (p   .003).[ncbi.nlm.nih.gov] A few case reports have described pulmonary toxoplasmosis in human immunodeficiency virus-infected patients in association with Toxoplasma gondii central nervous system disease[ncbi.nlm.nih.gov] KEYWORDS: Toxoplasma gondii ; acylation; cAMP‐dependent protein kinase A; cGMP‐dependent protein kinase G; egress[ncbi.nlm.nih.gov] […] in human villous explants from the third trimester.[ncbi.nlm.nih.gov]

    Missing: NIMA IN
  • Cystic Kidney

    Here, by establishing Nek8 kinase assays, we first demonstrate that the localization of Nek8 to centrosomes and cilia is dependent on both kinase activity and the C-terminal[ncbi.nlm.nih.gov] Methods: Mutation analysis of the TTC21B gene was performed by massive parallel sequencing.[ncbi.nlm.nih.gov] The effect of jck mutation on the expression of Nek8, a NIMA-related (never in mitosis A) kinase, and polycystins in jck cilia is shown for the first time.[ncbi.nlm.nih.gov] Complications related to ACKD may increase, which bolster efforts to establish specific guidelines related to the screening and management of ACKD.[ncbi.nlm.nih.gov] PURPOSE: Activator protein-1 has a central role in transducing cytokine signals. Activator protein-1 is composed of 2 proto-oncogene families, namely Jun and Fos.[ncbi.nlm.nih.gov] Survivin overexpression is associated with cancer, but the clinical pathology associated with survivin downregulation or knockout has never been studied before.[ncbi.nlm.nih.gov] All cancers were confined to the kidneys and there has been no recurrence during follow-up ranging from 6 to 26 months.[ncbi.nlm.nih.gov] RESULTS: The most common disorders were the presumably inherited renal cystic diseases (65.7%) mainly nephronophthisis and related ciliopathies (36.2%), as well as polycystic[ncbi.nlm.nih.gov] Renal gene panel testing identified causative mutations in 21 out of 34 families (62%), where patient and parental DNA was available.[ncbi.nlm.nih.gov] […] in each kidney 45 to 59 (females) 6 in each kidney 45 to 59 (males) 9 in each kidney Table 2.[aafp.org]

    Missing: IN
  • Nephronophthisis

    Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes.[ncbi.nlm.nih.gov] The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases.[ncbi.nlm.nih.gov] Six genes, NPHP1-6, have been reported, which when mutated result in NPHP.[ncbi.nlm.nih.gov] This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat.[genecards.org] Targeted genome capture and next-generation sequencing of this region identified a non-synonymous mutation R650C in the NIMA (never in mitosis gene a)- related kinase 8 ([ncbi.nlm.nih.gov] If extrarenal symptoms are present in addition to NPHP, these disorders are classified as NPHP-related ciliopathies (NPHP-RC).[ncbi.nlm.nih.gov] Here we utilize Caenorhabditis elegans and cilia-associated behavioral and morphologic assays to evaluate the pathogenic potential of eight previously reported human NPHP4[ncbi.nlm.nih.gov] By looking at her, one would never know that she has been through all that she has.[nephhope.org] […] nephronophthisis 3 (adolescent) NPHP3 CFAP31 FLI30691 FLI36696 KIAA2000 MKS7 NPH3 SLSN3 608002 7907 nephrocystin 4 nephronophthisis 4 NPHP4 KIAA0673 POC10 SLSN4 607215 19104 NIMA[ukgtn.nhs.uk] In this review, we discuss the identified causative mutations that give rise to nephronophthisis and how these are related to the disease etiology in both the kidney and other[ncbi.nlm.nih.gov]

    Missing: IN
  • Juvenile Myoclonic Epilepsy

    […] genetics* Sequence Analysis, DNA Young Adult Substances ICK protein, human Protein-Serine-Threonine Kinases Grant support R01 NS055057/NS/NINDS NIH HHS/United States[ncbi.nlm.nih.gov] In the present study, we wished to investigate the role of the CSTB gene in patients with JME.[ncbi.nlm.nih.gov] […] healthy controls (age: 22.10 5.0 years; M:F 6:14).[ncbi.nlm.nih.gov] The EFHC1 protein is attached to another protein that acts as a calcium channel. This protein allows positively charged calcium ions to cross the cell membrane.[ghr.nlm.nih.gov] Her epilepsy was never well controlled. She also received neuroleptics. At age 42, she was found dead in her home.[ncbi.nlm.nih.gov] Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal[ncbi.nlm.nih.gov] The aim of this study is to characterize PI as the only reflex trait in JME and its relation with prognosis.[ncbi.nlm.nih.gov] RESULTS: Significant associations were found between poor seizure control and prolonged 3s epileptiform runs, p 0.03 (8/19 vs 2/21), long 3s photoparoxysmal runs, p 0.04 (6[ncbi.nlm.nih.gov] Conversely, other cognitive tasks, such as reading, typing, thinking, or calculation never elicited any seizures or myoclonus.[ncbi.nlm.nih.gov] […] subunit B, beta ( PPP2R2B ); Atassia spinocerebellare, tipo 17 (SCA17) : gene TATA box binding protein ( TBP ); Atassia spinocerebellare, tipo 14 (SCA14) : gene Protein kinase[isn.cnr.it]

    Missing: NIMA IN
  • Nephronophthisis

    Here, by establishing Nek8 kinase assays, we first demonstrate that the localization of Nek8 to centrosomes and cilia is dependent on both kinase activity and the C-terminal[ncbi.nlm.nih.gov] Dear Colleagues, We are happy to include your patient in our mutation analysis in single-gene causes of nephronophthisis.[renalgenes.org] Young , Medical genetics 1962, Journal of Chronic Diseases , 1963 , 16 , 6, 457 CrossRef[onlinelibrary.wiley.com] […] nephronophthisis 3 (adolescent) NPHP3 CFAP31 FLI30691 FLI36696 KIAA2000 MKS7 NPH3 SLSN3 608002 7907 nephrocystin 4 nephronophthisis 4 NPHP4 KIAA0673 POC10 SLSN4 607215 19104 NIMA[ukgtn.nhs.uk] Nephrolithiasis and nephrocalcinosis 651 The catheter 669 Nonsurgical management of vesicourethral dysfunction 681 حقوق النشر معلومات المراجع العنوان Therapy of Renal Diseases and Related[books.google.com] The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development.[genecards.org] By looking at her, one would never know that she has been through all that she has.[nephhope.org] […] centrosomal protein 290kDa 610142 NPHP6 JBTS5 MKS4 SLSN6 BBS14 20% of LCA GLIS2 GLIS family zinc finger 2 608539 NPHP7 LCA RPGRIP1L * RPGRIP1-like 610937 NPHP8 JBTS7 MKS5 NEK8 NIMA-related[chikd.org] OFD1-related Joubert syndrome is inherited in an X-linked manner.[invitae.com] Journal of the American Society of Nephrology . 18 (6): 1855–71. doi : 10.1681/ASN.2006121344 . PMID 17513324 . Kanwal, Kher (2007).[en.wikipedia.org]

    Missing: IN
  • Fibrosarcoma

    To confirm the detailed molecular mechanisms of these effects, we measured the activation of phosphoinositide 3 kinase (PI3-kinase) and mitogen-activated protein kinase (MAPK[ncbi.nlm.nih.gov] Gene expression was analyzed by RNA microarrays.[ncbi.nlm.nih.gov] J Clin Ultrasound. 2014 Jul-Aug;42(6):363-6. doi: 10.1002/jcu.22117. Epub 2013 Nov 27.[ncbi.nlm.nih.gov] Over 250 nuclear proteins captured on chromosomal DNA following treatment with cisplatin were identified, including high mobility group (HMG) proteins, histone proteins, and[ncbi.nlm.nih.gov] He has never smoked cigarette and has never been exposed to organic or inorganic dust.[anmjournal.com] All cases exhibited a cellular tumor arranged in sheets of uniform oval to spindle cells, increased mitosis, and hemangiopericytoma-like vessels.[ncbi.nlm.nih.gov] We report a case of refractory IFS with constitutive activation of the tropomyosin-related kinase (TRK) signaling pathway from an ETS variant gene 6-neurotrophin 3 receptor[ncbi.nlm.nih.gov] The patient did not receive adjuvant treatment, and remained free of disease after a follow up of 6 months.[ncbi.nlm.nih.gov] There is a mild degree of nuclear pleomorphism and rare mitosis, with a collagenous stroma.[ijdr.in] Assessment demonstrated suppressed parathyroid hormone and 1,25-dihydroxyvitamin D levels with elevated circulating levels of parathyroid hormone related protein, indicating[ncbi.nlm.nih.gov]

    Missing: NIMA IN